يعرض 1 - 20 نتائج من 397 نتيجة بحث عن '"Layman, Lawrence"', وقت الاستعلام: 0.61s تنقيح النتائج
  1. 1
    Academic Journal
    Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3)

    المؤلفون: Susgun, Seda, Ben-Mahmoud, Afif, Rüschendorf, Franz, Ku, Bonsu, Hussain, Syeda Iqra, Schulz, Solveig, Puk, Oliver, Biskup, Saskia, Labonne, Jonathan D.J., Don, Dilan Wellalage, Gupta, Vijay, Choi, Tae Ik, Khan, Saadullah, Wasif, Naveed, Lacassie, Yves, Layman, Lawrence C., Iseri, Sibel Aylin Ugur, Kim, Cheol Hee, Kim, Hyung Goo

    المصدر: School of Medicine Faculty Publications

    مصطلحات موضوعية: Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Medical Molecular Biology, Musculoskeletal System

    وصف الملف: application/pdf

    Relation: https://digitalscholar.lsuhsc.edu/som_facpubs/2994; https://digitalscholar.lsuhsc.edu/context/som_facpubs/article/3996/viewcontent/MacrocephalyAndDigitalAnomaliesExpandThePhenotypicSpectrum_2024.pdf

    الاتاحة: https://digitalscholar.lsuhsc.edu/som_facpubs/2994
    https://doi.org/10.1155/2024/5518289
    https://digitalscholar.lsuhsc.edu/context/som_facpubs/article/3996/viewcontent/MacrocephalyAndDigitalAnomaliesExpandThePhenotypicSpectrum_2024.pdf

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  2. 2
    Academic Journal
    Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome

    المؤلفون: Brakta, Soumia, Du, Quansheng, Chorich, Lynn P., Hawkins, Zoe A., Sullivan, Megan E., Ko, Eun Kyung, Kim, Hyung-Goo, Knight, James, Taylor, Hugh S., Friez, Michael, Phillips, John A., Layman, Lawrence C.

    المساهمون: NICHD

    المصدر: Molecular and Cellular Endocrinology ; volume 589, page 112237 ; ISSN 0303-7207

    الاتاحة: http://dx.doi.org/10.1016/j.mce.2024.112237
    https://api.elsevier.com/content/article/PII:S0303720724000935?httpAccept=text/xml
    https://api.elsevier.com/content/article/PII:S0303720724000935?httpAccept=text/plain

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  3. 3
    Academic Journal
    Prevalence of pathogenic variants and digenic disease in patients diagnosed with normosmic hypogonadotropic hypogonadism/Kallmann Syndrome

    المؤلفون: Poch, Alexandra, Dougherty, Michael P., Roman, Robert A., Chorich, Lynn, Hawkins, Zoe, Kim, Soo-Hyun, Kim, Hyung-Goo, Layman, Lawrence C.

    المساهمون: National Institutes of Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development

    المصدر: Molecular and Cellular Endocrinology ; volume 589, page 112224 ; ISSN 0303-7207

    الاتاحة: http://dx.doi.org/10.1016/j.mce.2024.112224
    https://api.elsevier.com/content/article/PII:S0303720724000807?httpAccept=text/xml
    https://api.elsevier.com/content/article/PII:S0303720724000807?httpAccept=text/plain

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  4. 4
    Academic Journal
    P393: Elevated prevalence of ACMG medically actionable variants in women with Mayer-Rokitansky-Küster-Hauser syndrome

    المؤلفون: Theisen, John, Hawkins, Zoe, Chorich, Lynn, Layman, Lawrence

    المصدر: Genetics in Medicine Open ; volume 2, page 101287 ; ISSN 2949-7744

    الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.101287
    https://api.elsevier.com/content/article/PII:S2949774424004333?httpAccept=text/xml
    https://api.elsevier.com/content/article/PII:S2949774424004333?httpAccept=text/plain

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  5. 5
    Academic Journal
    A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome

    المؤلفون: Ben-Mahmoud, Afif, Kishikawa, Shotaro, Gupta, Vijay, Leach, Natalie T., Shen, Yiping, Moldovan, Oana, Goel, Himanshu, Hopper, Bruce, Ranguin, Kara, Gruchy, Nicolas, Maas, Saskia M., Lacassie, Yves, Kim, Soo-Hyun, Kim, Woo-Yang, Quade, Bradley J., Morton, Cynthia C., Kim, Cheol-Hee, Layman, Lawrence C., Kim, Hyung-Goo

    المساهمون: The University of Newcastle. College of Health, Medicine & Wellbeing, School of Medicine and Public Health

    مصطلحات موضوعية: Kallmann syndrome, intellectual disability, chromosomal translocation, genes, mutations

    Relation: Scientific Reports Vol. 13, no. 12984; http://hdl.handle.net/1959.13/1491150; uon:53025

    الاتاحة: http://hdl.handle.net/1959.13/1491150

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  6. 6
    Academic Journal
    Endogenous estradiol contributes to vascular endothelial dysfunction in premenopausal women with type 1 diabetes

    المؤلفون: Simon, Abigayle B., Derella, Cassandra C., Blackburn, Marsha, Thomas, Jeffrey, Layman, Lawrence C., Nicholson, Matthew S., Waller, Jennifer, Elmarakby, Ahmed, Saad, Karim M., Harris, Ryan A.

    المساهمون: National Institutes of Health

    المصدر: Cardiovascular Diabetology ; volume 22, issue 1 ; ISSN 1475-2840

    الاتاحة: http://dx.doi.org/10.1186/s12933-023-01966-6
    https://link.springer.com/content/pdf/10.1186/s12933-023-01966-6.pdf
    https://link.springer.com/article/10.1186/s12933-023-01966-6/fulltext.html

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  7. 7
    Academic Journal
    Coordination of canonical and noncanonical Hedgehog signalling pathways mediated by WDR11 during primordial germ cell development

    المؤلفون: Lee, Jiyoung, Kim, Yeonjoo, Ataliotis, Paris, Kim, Hyung-Goo, Kim, Dae-Won, Bennett, Dorothy C., Brown, Nigel A., Layman, Lawrence C., Kim, Soo-Hyun

    المساهمون: Medical Research Council, St George’s Research Bridging Fund Scheme, Global Educational Trust

    المصدر: Scientific Reports ; volume 13, issue 1 ; ISSN 2045-2322

    الاتاحة: http://dx.doi.org/10.1038/s41598-023-38017-9
    https://www.nature.com/articles/s41598-023-38017-9.pdf
    https://www.nature.com/articles/s41598-023-38017-9

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  8. 8
    Academic Journal
    Providing baseline data for conservation–Heart rate monitoring in captive scimitar-horned oryx

    المؤلفون: Leimgruber, Peter, Songsasen, Nucharin, Stabach, Jared A., Horning, Megan, Reed, Dolores, Buk, Tara, Harwood, Arielle, Layman, Lawrence, Mathews, Christopher, Vance, Morgan, Marinari, Paul, Helmick, Kelly E., Delaski, Kristina M., Ware, Lisa H., Jones, Julia C., Silva, Jose L. P., Laske, Timothy G., Moraes, Rosana Nogueira

    المصدر: Frontiers in Physiology ; volume 14 ; ISSN 1664-042X

    الاتاحة: http://dx.doi.org/10.3389/fphys.2023.1079008
    https://www.frontiersin.org/articles/10.3389/fphys.2023.1079008/full

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  9. 9
    Academic Journal
    Identification of two novel autism genes, TRPC4 and SCFD2, in Qatar simplex families through exome sequencing

    المؤلفون: Gupta, Vijay, Ben-Mahmoud, Afif, Ku, Bonsu, Velayutham, Dinesh, Jan, Zainab, Yousef Aden, Abdi, Kubbar, Ahmad, Alshaban, Fouad, Stanton, Lawrence W., Jithesh, Puthen Veettil, Layman, Lawrence C., Kim, Hyung-Goo

    المصدر: Frontiers in Psychiatry ; volume 14 ; ISSN 1664-0640

    الاتاحة: http://dx.doi.org/10.3389/fpsyt.2023.1251884
    https://www.frontiersin.org/articles/10.3389/fpsyt.2023.1251884/full

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  10. 10
    Academic Journal
    Clinical Validation and Diagnostic Utility of Optical Genome Mapping in Prenatal Diagnostic Testing

    المؤلفون: Sahajpal, Nikhil S., Mondal, Ashis K., Fee, Timothy, Hilton, Benjamin, Layman, Lawrence, Hastie, Alex R., Chaubey, Alka, DuPont, Barbara R., Kolhe, Ravindra

    المصدر: The Journal of Molecular Diagnostics ; volume 25, issue 4, page 234-246 ; ISSN 1525-1578

    الاتاحة: http://dx.doi.org/10.1016/j.jmoldx.2023.01.006
    https://api.elsevier.com/content/article/PII:S1525157823000223?httpAccept=text/xml
    https://api.elsevier.com/content/article/PII:S1525157823000223?httpAccept=text/plain

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  11. 11
    Academic Journal
    Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function

    المؤلفون: Lin, Sheng‐Jia, Vona, Barbara, Porter, Hillary M., Izadi, Mahmoud, Huang, Kevin, Lacassie, Yves, Rosenfeld, Jill A., Khan, Saadullah, Petree, Cassidy, Ali, Tayyiba A., Muhammad, Nazif, Khan, Sher A., Muhammad, Noor, Liu, Pengfei, Haymon, Marie‐Louise, Rüschendorf, Franz, Kong, Il‐Keun, Schnapp, Linda, Shur, Natasha, Chorich, Lynn, Layman, Lawrence, Haaf, Thomas, Pourkarimi, Ehsan, Kim, Hyung‐Goo, Varshney, Gaurav K., 1 Genes & Human Disease Research Program Oklahoma Medical Research Foundation Oklahoma City Oklahoma USA, 5 Children's National Hospital Rare Disease Institute Washington District of Columbia USA, 6 Division of Genomics and Translational Medicine, College of Health and Life Sciences Hamad Bin Khalifa University Doha Qatar, 7 Department of Pediatrics, Louisiana State University Health Sciences Center Head Division of Clinical Genetics and Dept. of Genetics Children's Hospital 1986‐2016 New Orleans Los Angeles USA, 8 Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA, 10 Department of Biotechnology and Genetic Engineering Kohat University of Science & Technology Kohat Khyber Pakhtunkhwa Pakistan, 11 Children Hospital New Orleans Louisiana, Pediatric Radiology Tulane Associate Professor of Radiology New Orleans Los Angeles USA, 12Max Delbrück Center for Molecular Medicine in the Helmholtz Association Berlin Germany, 13 Department of Animal Sciences, Division of Applied Life Science (BK21 Four) Gyeongsang National University Jinju South Korea, 2 Institute of Human Genetics Julius Maximilians University Würzburg Würzburg Germany, 14 Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics and Gynecology, Department of Neuroscience and Regenerative Medicine, Medical College of Georgia Augusta University Augusta USA, 15 Neurological Disorders Research Center, Qatar Biomedical Research Institute Hamad Bin Khalifa University Doha Qatar

    المساهمون: Lin, Sheng‐Jia, Vona, Barbara, Porter, Hillary M., Izadi, Mahmoud, Huang, Kevin, Lacassie, Yves, Rosenfeld, Jill A., Khan, Saadullah, Petree, Cassidy, Ali, Tayyiba A., Muhammad, Nazif, Khan, Sher A., Muhammad, Noor, Liu, Pengfei, Haymon, Marie‐Louise, Rüschendorf, Franz, Kong, Il‐Keun, Schnapp, Linda, Shur, Natasha, Chorich, Lynn, Layman, Lawrence, Haaf, Thomas, Pourkarimi, Ehsan, Kim, Hyung‐Goo, Varshney, Gaurav K., 1 Genes & Human Disease Research Program Oklahoma Medical Research Foundation Oklahoma City Oklahoma USA, 5 Children's National Hospital Rare Disease Institute Washington District of Columbia USA, 6 Division of Genomics and Translational Medicine, College of Health and Life Sciences Hamad Bin Khalifa University Doha Qatar, 7 Department of Pediatrics, Louisiana State University Health Sciences Center Head Division of Clinical Genetics and Dept. of Genetics Children's Hospital 1986‐2016 New Orleans Los Angeles USA, 8 Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA, 10 Department of Biotechnology and Genetic Engineering Kohat University of Science & Technology Kohat Khyber Pakhtunkhwa Pakistan, 11 Children Hospital New Orleans Louisiana, Pediatric Radiology Tulane Associate Professor of Radiology New Orleans Los Angeles USA, 12Max Delbrück Center for Molecular Medicine in the Helmholtz Association Berlin Germany, 13 Department of Animal Sciences, Division of Applied Life Science (BK21 Four) Gyeongsang National University Jinju South Korea, 2 Institute of Human Genetics Julius Maximilians University Würzburg Würzburg Germany, 14 Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics and Gynecology, Department of Neuroscience and Regenerative Medicine, Medical College of Georgia Augusta University Augusta USA, 15 Neurological Disorders Research Center, Qatar Biomedical Research Institute Hamad Bin Khalifa University Doha Qatar

    Relation: EXC 2067: Multiscale Bioimaging; https://resolver.sub.uni-goettingen.de/purl?gro-2/117314; https://mbexc.uni-goettingen.de/literature/publications/524

    الاتاحة: https://resolver.sub.uni-goettingen.de/purl?gro-2/117314
    https://doi.org/10.1002/humu.24435
    https://mbexc.uni-goettingen.de/literature/publications/524

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  12. 12
    Academic Journal
    Transgender identity genetic research: Attitudes, opinions & beliefs among members of the transgender and gender diverse communities.

    المؤلفون: Theisen, J. Graham, Draheim, Amanda A., Darosh, Angela, Layman, Lawrence C., Stepleman, Lara M.

    المصدر: International Journal of Transgender Health; Oct-Dec2024, Vol. 25 Issue 4, p971-984, 14p

    مصطلحات موضوعية: GENDER-nonconforming people, GENETIC research, GENDER identity, RESEARCH funding, TRANSGENDER people, QUESTIONNAIRES, SEXUAL orientation identity, QUANTITATIVE research, DESCRIPTIVE statistics, MULTIVARIATE analysis, RACE, GENDER affirmation surgery, INTERSEX people, HORMONE therapy, ANALYSIS of variance, DATA analysis software, PSYCHOSOCIAL factors, PATIENTS' attitudes, HOPE, EDUCATIONAL attainment

    مصطلحات جغرافية: GEORGIA


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  13. 13
    Academic Journal
    Assessing neophobia and exploration while accounting for social context: an example application in scimitar-horned oryx

    المؤلفون: Mertes, Katherine, Ressijac, Catherine A., Moraes, Rosana N., Hughey, Lacey F., Alegre, Luisa H. Porto, Horning, Megan, Buk, Tara, Harwood, Arielle, Layman, Lawrence, Mathews, Christopher, Vance, Morgan, Reed, Dolores, Stabach, Jared A., Goldenberg, Shifra Z.

    المساهمون: Smithsonian Women's Committee

    المصدر: Mammalian Biology ; volume 102, issue 4, page 1357-1371 ; ISSN 1616-5047 1618-1476

    الاتاحة: http://dx.doi.org/10.1007/s42991-022-00271-1
    https://link.springer.com/content/pdf/10.1007/s42991-022-00271-1.pdf
    https://link.springer.com/article/10.1007/s42991-022-00271-1/fulltext.html

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  14. 14
    Academic Journal
    A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders

    المؤلفون: Ben-Mahmoud, Afif, Jun, Kyung Ran, Gupta, Vijay, Shastri, Pinang, de la Fuente, Alberto, Park, Yongsoo, Shin, Kyung Chul, Kim, Chong Ae, da Cruz, Aparecido Divino, Pinto, Irene Plaza, Minasi, Lysa Bernardes, Silva da Cruz, Alex, Faivre, Laurence, Callier, Patrick, Racine, Caroline, Layman, Lawrence C., Kong, Il-Keun, Kim, Cheol-Hee, Kim, Woo-Yang, Kim, Hyung-Goo

    المساهمون: Qatar Biomedical Research Institute, Hamad Bin Khalifa University

    المصدر: Frontiers in Molecular Neuroscience ; volume 15 ; ISSN 1662-5099

    الاتاحة: http://dx.doi.org/10.3389/fnmol.2022.979061
    https://www.frontiersin.org/articles/10.3389/fnmol.2022.979061/full

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  15. 15
    Academic Journal
    ESR1 HINGE REGION VARIANT IN A PATIENT WITH UNEXPLAINED INFERTILITY

    المؤلفون: Roman, Robert A., Liu, Haitao, Chorich, Lynn, Li, Yin, Hall, Janet E., Diamond, Michael P., Korach, Kenneth S., Layman, Lawrence C.

    المصدر: Fertility and Sterility ; volume 118, issue 4, page e214 ; ISSN 0015-0282

    الاتاحة: http://dx.doi.org/10.1016/j.fertnstert.2022.08.608
    https://api.elsevier.com/content/article/PII:S001502822201130X?httpAccept=text/xml
    https://api.elsevier.com/content/article/PII:S001502822201130X?httpAccept=text/plain

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  16. 16
    Academic Journal
    PREVALENCE OF DIGENIC DISEASE IN PATIENTS DIAGNOSED WITH IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM/KALLMANN SYNDROME

    المؤلفون: Poch, Alexandra, Dougherty, Michael P., Roman, Robert A., Chorich, Lynn, Hawkins, Zoe, Layman, Lawrence C.

    المصدر: Fertility and Sterility ; volume 118, issue 4, page e189 ; ISSN 0015-0282

    الاتاحة: http://dx.doi.org/10.1016/j.fertnstert.2022.08.539
    https://api.elsevier.com/content/article/PII:S0015028222010615?httpAccept=text/xml
    https://api.elsevier.com/content/article/PII:S0015028222010615?httpAccept=text/plain

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  17. 17
    Academic Journal
    Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism.

    المؤلفون: Ghasemi, Mohammad-Reza, Sadeghi, Hossein, Hashemi-Gorji, Farzad, Mirfakhraie, Reza, Gupta, Vijay, Ben-Mahmoud, Afif, Bagheri, Saman, Razjouyan, Katayoon, Salehpour, Shadab, Tonekaboni, Seyed Hassan, Dianatpour, Mehdi, Omrani, Davood, Jang, Mi-Hyeon, Layman, Lawrence C., Miryounesi, Mohammad, Kim, Hyung-Goo

    المصدر: BMC Medical Genomics; 8/5/2024, Vol. 17 Issue 1, p1-15, 15p

    مصطلحات موضوعية: GENETIC variation, MUSCULAR dystrophy, AUTISM spectrum disorders, RECESSIVE genes, NEUROMUSCULAR diseases, FACIOSCAPULOHUMERAL muscular dystrophy

    مصطلحات جغرافية: IRAN

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  18. 18
    The WAIS Divide deep ice core WD2014 chronology - Part 2 : Annual-layer counting (0-31 ka BP)

    المؤلفون: Sigl, Michael, Fudge, Tyler J., Winstrup, Mai, Cole-Dai, Jihong, Ferris, David, McConnell, Joseph R., Taylor, Ken C., Welten, Kees C., Woodruff, Thomas E., Adolphi, Florian, Bisiaux, Marion, Brook, Edward J., Buizert, Christo, Caffee, Marc W., Dunbar, Nelia W., Edwards, Ross, Geng, Lei, Iverson, Nels, Koffman, Bess, Layman, Lawrence, Maselli, Olivia J., McGwire, Kenneth, Muscheler, Raimund, Nishiizumi, Kunihiko, Pasteris, Daniel R., Rhodes, Rachael H., Sowers, Todd A.

    المصدر: Climate of the Past. 12(3):769-786

    مصطلحات موضوعية: Naturvetenskap, Geovetenskap och miljövetenskap, Geologi, Natural Sciences, Earth and Related Environmental Sciences, Geology, Klimatforskning, Climate Research

    URL الوصول: https://lup.lub.lu.se/record/17836fe5-9fab-45ba-9265-3fd99e9de12a
    http://dx.doi.org/10.5194/cp-12-769-2016

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  19. 19
    Academic Journal
    Twenty‐year follow‐up of the facial phenotype of Brazilian patients with Sotos syndrome

    المؤلفون: Castro, Matheus Augusto Araújo, dos Santos, Juliana Heather Vedovato, Honjo, Rachel Sayuri, Yamamoto, Guilherme Lopes, Bertola, Débora Romeo, Hurst, Anna C., Chorich, Lynn P., Layman, Lawrence C., Kim, Chong Ae, Kim, Hyung‐Goo

    المساهمون: Conselho Nacional de Desenvolvimento Científico e Tecnológico

    المصدر: American Journal of Medical Genetics Part A ; volume 185, issue 12, page 3916-3923 ; ISSN 1552-4825 1552-4833

    الاتاحة: http://dx.doi.org/10.1002/ajmg.a.62454
    https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62454
    https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.62454

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  20. 20
    Academic Journal
    Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families

    المؤلفون: Doll, Julia, Vona, Barbara, Schnapp, Linda, Rüschendorf, Franz, Khan, Imran, Khan, Saadullah, Muhammad, Noor, Alam Khan, Sher, Nawaz, Hamed, Khan, Ajmal, Ahmad, Naseer, Kolb, Susanne M., Kühlewein, Laura, Labonne, Jonathan D. J., Layman, Lawrence C., Hofrichter, Michaela A. H., Röder, Tabea, Dittrich, Marcus, Müller, Tobias, Graves, Tyler D., Kong, Il-Keun, Nanda, Indrajit, Kim, Hyung-Goo, Haaf, Thomas

    مصطلحات موضوعية: ddc:610

    وصف الملف: application/pdf

    Relation: https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/21929; urn:nbn:de:bvb:20-opus-219293; https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-219293; https://doi.org/10.3390/genes11111329; https://opus.bibliothek.uni-wuerzburg.de/files/21929/genes-11-01329.pdf

    الاتاحة: https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/21929
    https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-219293
    https://doi.org/10.3390/genes11111329
    https://opus.bibliothek.uni-wuerzburg.de/files/21929/genes-11-01329.pdf

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